Rare Disease
Corneal Endothelial Dystrophy (CHED)
Alias:
Congenital Hereditary Endothelial Dystrophy of Cornea
Chandler Syndrome
Endothelial Corneal Dystrophy
Ched
Dystrophy of Corneal Endothelium
Chandler's Syndrome
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly
Corneal Dystrophy, Congenital Hereditary Endothelial
Corneal Endothelial Dystrophy 2, Autosomal Recessive
Corneal Endothelial Dystrophy 1, Autosomal Dominant
Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy, Autosomal Recessive
Posterior Membrane Corneal Dystrophy
Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial
Corneal Endothelial Dystrophy 2
Corneal Endothelium Dystrophy
Maumenee Corneal Dystrophy
Endothelial Dystrophy
Ched2, Formerly
Ched2
Eye diseases
Neuronal diseases
Basic Information
Corneal Endothelial Dystrophy, also known as congenital hereditary endothelial dystrophy of cornea, is related to corneal dystrophy and perceptive deafness and corneal dystrophy, endothelial, x-linked. An important gene associated with Corneal Endothelial Dystrophy is SLC4A11 (Solute Carrier Family 4 Member 11), and among its related pathways/superpathways are ECM proteoglycans and Adhesion. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include endothelial and eye, and related phenotypes are opacification of the corneal stroma and corneal dystrophy
Basic Information
Inheritance
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Prevalence
Related Gene
Disease Model
Reference
MALACARDS
Medical Symptom
Even among those with the same illness, each patient's condition and symptoms are unique. To provide patient-centered medical care, medical professionals must carefully evaluate individual differences between patients. This involves thorough assessment of medical details when diagnosing and developing treatment plans. To achieve personalized and maximally effective care, practitioners refer to the latest research and standards of care to tailor treatment strategies for each patient.
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
Diseases are frequently associated with anomalies or mutations in certain genes. These genes and mutations can disrupt cellular functioning and induce physiological imbalances, resulting in illnesses. In-depth research on illness genes and mutations can help us better understand disease etiology and give new ideas and approaches for disease prevention, diagnosis, and therapy.
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Gene
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Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
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Disease Model
The mouse disease model refers to the manipulation of the mouse genome through gene editing and other techniques, enabling it to carry a specific disease gene or lack an important gene. This provides an experimental platform for researching the mechanism of disease occurrence, drug development, and treatment efficacy.
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MGI
Related Gene
Strain of Origin
Publications
References
Disease literature reviews provide a wide spectrum of research findings and clinical data, giving vital information for our comprehensive understanding of illnesses. By researching this material, we may gain a better understanding of the illness's pathophysiology and treatment strategies, as well as give a scientific foundation for disease prevention and management.
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